243 results on '"van Ravenswaaij-Arts, Conny M"'
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2. Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
3. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
4. The role of TBX18 in congenital heart defects in humans not confirmed
5. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
6. DLG4-related synaptopathy: a new rare brain disorder
7. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
8. Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation
9. The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports
10. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
11. Additional file 1 of Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
12. The role of TBX18 in congenital heart defects in humans not confirmed
13. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role forDLL1
14. The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
15. Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
16. Guidelines in CHARGE syndrome and the missing link: Cranial imaging
17. CHD7 and CHARGE Syndrome
18. Unravelling terminal 6p deletions with the help of social media
19. TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility
20. Understanding Behavior in Phelan-McDermid Syndrome
21. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
22. Duplication 2p25 in a child with clinical features of CHARGE syndrome
23. Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
24. Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach
25. Prevalence of Genetic Testing in CHARGE Syndrome
26. Central 22q11.2 deletions
27. Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics
28. CHARGE Syndrome
29. Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries
30. CHARGE syndrome and related disorders: a mechanistic link
31. CHD7 Disorder
32. CHARGE Syndrome
33. DLG4-related synaptopathy:a new rare brain disorder
34. Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy
35. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
36. Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries
37. Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation
38. The role of TBX18in congenital heart defects in humans not confirmed
39. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. (Report)
40. Mutation update on the CHD7 gene involved in CHARGE syndrome
41. Diagnostic interpretation of array data using public databases and internet sources
42. The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome
43. CHARGE SYNDROME
44. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development
45. EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
46. Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
47. Heart Rate Variability
48. TAB2deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
49. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
50. Sema3a plays a role in the pathogenesis of CHARGE syndrome
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